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A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
BACKGROUND: Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS: A four-generation Chinese family diagnosed with autoso...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194747/ https://www.ncbi.nlm.nih.gov/pubmed/30340470 http://dx.doi.org/10.1186/s12881-018-0695-5 |